organic aciduria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (Human Disease Ontology, DOID_0060159)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001992
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Genes

41 genes associated with the organic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACSF3 acyl-CoA synthetase family member 3
AGXT alanine-glyoxylate aminotransferase
BTD biotinidase
CD320 CD320 molecule
CPT2 carnitine palmitoyltransferase 2
D2HGDH D-2-hydroxyglutarate dehydrogenase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCDH glutaryl-CoA dehydrogenase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
HADH hydroxyacyl-CoA dehydrogenase
HCFC1 host cell factor C1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
LMBRD1 LMBR1 domain containing 1
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MPC1 mitochondrial pyruvate carrier 1
MUT methylmalonyl CoA mutase
PEX1 peroxisomal biogenesis factor 1
POLG polymerase (DNA directed), gamma
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
TCN2 transcobalamin II